"Congenital heart disease" refers to defects in the heart and major great vessels produced by abnormalities at various stages of fetal development and present at birth, but which may not be diagnosed until later. The incidence of such anomalies is 1/120 live births (The Merck Manual of Diagnosis and Therapy, 16.sup.th Ed. (1992) p. 2051). "Atrial septal defect" is form of congenital heart disease in which there is an opening in the septum that normally separates the atria. The typical murmur of atrial septal defect is usually present after age 1 yr., when pulmonary blood flow has increased significantly.
Many congenital heart diseases have a genetic basis. However, surgery offers the only therapeutic option for many of these disorders. In addition, current identification and diagnosis of congenital heart disease depends on the recognition of affected cardiac function, such as heart murmurs representing turbulent flow, altered systemic and pulmonary blood flow, shunting in either direction, and evidences of altered work load of the cardiac chambers. Routine history, physical examination, ECG, and chest x-ray are usually performed for specific anatomic diagnosis, with supportive and confirmatory data from echocardiography, cardiac catheterization, angiocardiography and other laboratory data.
Improved therapies and diagnostics for genetically based congenital heart diseases are needed.